This website provides information on patients with mutations in the PIK3CA gene, including clinical data, molecular data, management and research options.

Mutations in the PIK3CA gene are associated with a growing spectrum of multisystem disorders characterized by a heterogenous set of features including overgrowth (focal or generalized; brain and/or body), vascular malformations (including capillary and venous malformations), lymphatic malformations, digital anomalies (e.g. syndactyly, polydactyly), cortical malformations (polymicrogyria, focal cortical dysplasia, hemimegalencephaly) and other medical issues; as well as several diverse single tissue disorders or isolated phenotypes. Not all individuals with a mutation in the PIK3CA gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PIK3CA gene.

Ghayda Mirzaa, MD, University of Washington School of Medicine, Seattle, Washington, USA, Ghayda.mirzaa@seattlechildrens.org

William B. Dobyns, MD, University of Washington School of Medicine, Seattle, Washington, USA, wbd@uw.edu